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Resumo Fundamento O polimorfismo de Inserção/Deleção (I/D) da enzima conversora de angiotensina (ECA) (rs4340) está associado à patogênese da insuficiência cardíaca (IC). Esse polimorfismo pode contribuir para uma maior propensão à IC grave e ao excesso de peso. Objetivo Avaliar a adiposidade, a função cardíaca e sua associação com o polimorfismo I/D da ECA em pacientes com IC. Métodos Estudo transversal com indivíduos ambulatoriais com idade ≥18 anos diagnosticados com IC. A análise genética foi realizada por reação em cadeia da polimerase seguida de eletroforese em gel de agarose. A fração de ejeção do ventrículo esquerdo (FEVE) foi determinada por ecocardiografia. O estado nutricional foi avaliado pelo índice de massa corporal, enquanto a adiposidade foi avaliada pela análise de Bioimpedância elétrica (BIA), circunferência da cintura, razão cintura-quadril e razão cintura-estatura. O nível de significância adotado foi de 5% (p < 0,05). Resultados Setenta e um indivíduos foram incluídos, com média de idade de 55,8 ± 13,0 anos, predominantemente do sexo masculino (66,2%), com classe funcional I e II (90,9%) e FEVE mediana de 30% (24-40). A prevalência de sobrepeso foi de 38%, obesidade classe I foi de 23,9% e obesidade classe II e III foi de 12,7%, com 50,7% apresentando excesso de adiposidade conforme avaliado pela BIA. Um total de 88 alelos D e 54 alelos I do gene da ECA foram identificados. Em relação aos genótipos da ECA, 38,1% eram DD, 47,8% eram ID e 14,1% eram II. Na análise multivariada, o alelo D (genótipos DD+ID versus II) foi associado à FEVE (RP de 0,995; IC de 95% 0,991–1,000; p = 0,048) e à etiologia da IC (cardiomiopatia dilatada: RP 1,283; IC de 95% 1,039–1,583; p = 0,021). Nenhuma associação independente foi encontrada com a adiposidade. Conclusão A presença do alelo D do polimorfismo da ECA está associada à FEVE e à etiologia da IC. Apesar da prevalência do sobrepeso na amostra, não foram encontradas associações independentes.

La diabetes mellitus es un grupo de trastornos metabólicos comunes que comparten el fenotipo de hiperglucemia. El polimorfismo Pro12Ala en el exón B del gen que codifica para PPARg2 ha sido asociado en algunas poblaciones con diabetes tipo 2. El objetivo de este estudio fue determinar si existe asociación del polimorfismo Pro12Ala de PPARg2 y la diabetes mellitus tipo 2 en una muestra de la población panameña. Se evaluó la posible asociación del polimorfismo Pro12Ala en una muestra de 195 individuos (99 controles y 96 experimentales) de la población panameña. El polimorfismo Pro12Ala se detectó mediante análisis de reacción en cadena de la polimerasa y polimorfismo de longitud de fragmentos de restricción (PCR-RFLP). Se observó una mayor frecuencia del genotipo Pro12Ala en el grupo experimental (DM2) con respecto al grupo control (0.114 vs 0.010). La frecuencia del alelo Ala12 (alelo de menor frecuencia) en nuestro estudio fue de 2.8%. Este trabajo representa el primer estudio sobre asociación entre diabetes mellitus tipo 2 y el polimorfismo Pro12Ala (rs18012829) en una muestra de casos y controles. La razón de momios (OR) evidenció asociación con un riesgo relativo de 1.9735 en aquellos con genotipo Pro12Ala. La frecuencia del genotipo Pro12Ala fue mayor en mujeres lo cual sugiere que éstas pueden estar más predispuestas a desarrollar esta condición.

Copyright of Tanzania Journal of Health Research is the property of Tanzania Health Research User's Trust Fund and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Colombiana de Ciencias Pecuarias is the property of Universidad de Antioquia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Climate change is a global environmental threat, directly affecting biodiversity. Terrestrial gastropods are particularly susceptible to alterations in temperature and humidity and have develop morph-physiological and behavioural adaptations in this regard. Shell colour polymorphism and its potential implication for thermoresistance constitute an unexplored field in Neotropical land snails. The variation in shell colour luminance is characterized in the threatened endemic Eastern Cuban tree snails Polymita picta and Polymita muscarum using digital tools; being able to discriminate shell luminance between colour morphs for both species, under different image-taking conditions. For P. muscarum, the albino morph presented the highest luminance values (152.7 ± 0.4); while the lowest values correspond to the brown morph with dark bands (112.9 ± 0.8). Otherwise, for P. picta, the morphs showing the highest luminance were yellow with a pink sutural band (112.8 ± 7.1) and pale yellow (112.6 ± 10.3) and the lowest luminance corresponded to the black morph (44.5 ± 1.2). The presence of dark bands decreased the luminance values regardless of their position in the shell, the morph and the species analysed. In general, the shells of P. muscarum have higher luminance than those of P. picta. Luminance variations demonstrate the 'indiscrete' nature of this trait and highlight the complex interactions between evolutionary mechanisms and shell color polymorphism in Polymita. This supports the hypothesis that colour has adaptive value for thermoregulation, encompassing not only the background colour but also the coloration of the bands. The differences in the shell luminance in both species suggest a correlation with the geographical distribution and corresponding habitats. Based on our findings, yellowish morphs will be more resistant to future climatic conditions in their respective habitats on the island. [ABSTRACT FROM AUTHOR]

The 20 established STRs that make up the CoDIS package must comply with national and international privacy rights and legal policies. Current research reveals that it is possible that certain genetic markers, used in forensic contexts, may show information about other neighboring markers that could reflect certain private characteristics of individuals. Therefore, we will aim to find out, through a literature review, whether there may indeed be associations between some of the STRs alleles established by CoDIS and medical and phenotypic conditions, with the aim of checking whether this problem has a real basis. To carry out this review, a systematic search has been carried out in different databases, as well as a critical evaluation of the articles collected and a synthesis of all the relevant studies. The results generally show that private phenotypic data of the individual can be known from certain STRs established by CoDIS, due to their association with neighboring genes. However, most of the papers state that practically none of the established associations offer proof of causality, but rather a relationship between some STRs and a phenotype., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)